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Last uploaded: January 31, 2024

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Preferred Name	Hermanski-Pudlak Syndrome
Synonyms	Hermanski Pudlak Syndrome
Definitions	Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
ID	http://purl.bioontology.org/ontology/MESH/D022861
altLabel	Hermanski Pudlak Syndrome Hermansky-Pudlak Syndrome Hermansky Pudlak Syndrome
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0079504
DC	1
definition	Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
DX	20010101
HN	2001
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2001
Mapped from	http://purl.bioontology.org/ontology/MESH/C537709 http://purl.bioontology.org/ontology/MESH/C537025 http://purl.bioontology.org/ontology/MESH/C538539
MDA	20000622
MMR	20160701
MN	C15.378.140.735.400 C16.320.099.515 C16.320.290.040.100.400 C15.378.463.735.400 C16.320.850.080.100.400 C17.800.827.080.100.400 C11.270.040.545.400 C16.320.565.100.102.100.400 C15.378.100.100.515 C17.800.621.440.102.100.400 C15.378.100.685.400 C18.452.648.100.102.100.400
notation	D022861
prefLabel	Hermanski-Pudlak Syndrome
TERMUI	T047882 T459168
TH	OMIM (2013) NLM (1991) NLM (2003) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D025861 http://purl.bioontology.org/ontology/MESH/D016115 http://purl.bioontology.org/ontology/MESH/D010981

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10071775	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.331	ICD10CM	CUI
http://purl.bioontology.org/ontology/CSP/0446-1413	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/9311003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D022861	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X20Ex	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071775	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004251	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071775	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2420	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/1849-0399	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/9311003	SNOMEDCT	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.040.545.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.140.735.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040.100.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.515	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D022861	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15184	OCHV	LOOM
http://purl.obolibrary.org/obo/OMIT_0020934	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.685.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.735.400	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036597	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080.100.400	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906034112337650	IOBC	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3753	NATPRO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.515	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102.100.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080.100.400	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102.100.400	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D022861	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102.100.400	RH-MESH	LOOM